rs9527

This is a regulatory region variant variant in the BORCS7 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

testosterone measurement

Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele T
OR 0.03
p 2.0e-20
N 235,579
Large GWAS
European
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele T
OR 0.02
p 6.0e-15
N 188,507
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic variation in arsenic (+3 oxidation state) methyltransferase (AS3MT), arsenic metabolism and risk of basal cell carcinoma in a European population
AssociationN=1,062Karin S. Engström et al.(2015)· Environmental and Molecular Mutagenesis

A European case-control study of 529 BCC cases and 533 controls examined AS3MT genetic haplotypes and their association with arsenic metabolism and basal cell carcinoma risk. Five AS3MT haplotypes based on rs3740400, rs3740393, rs11191439, and rs1046778 were identified. The CCTC haplotype (haplotype 2) was associated with more efficient arsenic metabolism and protective effect (OR=1.0, p=0.85), while the CGCT haplotype (haplotype 4) showed higher toxic MMA levels and increased BCC risk (OR=1.1-1.4). Individuals lacking both haplotypes 1 and 2 had the highest arsenic-related BCC risk (OR=2.7, 95% CI 1.5-4.8).

Traits studied:Arsenic metabolismBasal cell carcinomaSkin lesions
PubMedDOIMetascience Observatory

About BORCS7

Predicted to be involved in organelle transport along microtubule; regulation of endosome size; and regulation of lysosome size. Predicted to act upstream of or within several processes, including lysosome localization; motor behavior; and response to cycloheximide. Part of BORC complex. [provided by Alliance of Genome Resources, Apr 2025]

View all BORCS7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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